Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|

17 | g.43093454C>A | CA001377 | BRCA1 | c.2077G>T (p.Asp693Tyr) c.1936G>T (p.Asp646Tyr) c.787+1290G>T (p.=) n.2213G>T n.2254G>T c.670+2392G>T (p.=) c.*1860G>T (p.=) c.784+1290G>T (p.=) n.409+1290G>T (p.=) n.412+1290G>T (p.=) c.646+1290G>T (p.=) c.5-29503G>T (p.=) c.-43-18933G>T (p.=) c.-99+31817G>T (p.=) c.1954G>T (p.Asp652Tyr) | ClinVar dbSNP |

17 | g.43093454C>T | CA001376 | BRCA1 | c.2077G>A (p.Asp693Asn) c.1936G>A (p.Asp646Asn) c.787+1290G>A (p.=) n.2213G>A n.2254G>A c.670+2392G>A (p.=) c.*1860G>A (p.=) c.784+1290G>A (p.=) n.409+1290G>A (p.=) n.412+1290G>A (p.=) c.646+1290G>A (p.=) c.5-29503G>A (p.=) c.-43-18933G>A (p.=) c.-99+31817G>A (p.=) c.1954G>A (p.Asp652Asn) | ClinVar dbSNP ExAC gnomAD |